ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg) (rs1484399991)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656097 SCV000598596 uncertain significance Corpus callosum, partial agenesis of, X-linked 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development

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